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The complete European guidelines on phenylketonuria: diagnosis and treatment

Annemiek M. J. van Wegberg, Anita MacDonald, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Blau, Annet M. Bosch, Alberto Burlina, Josep M. Campistol, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Shauna Kearney, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, M. van Rijn, Friedrich K. Trefz, J. H. Walter, Francjan J. van Spronsen · Orphanet Journal of Rare Diseases · 2017

DOI 10.1186/s13023-017-0685-2

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  • Metadata only — full assessment not yet run.

The Paper Scorecard

  • Standingclear
    • No retraction on record (OpenAlex metadata as of 2026-08-23).
  • Designjournal article
    • Journal article (Orphanet Journal of Rare Diseases). Study design detail comes from the methodology read, not metadata.
  • Executionnot assessed
    • Metadata only — full assessment not yet run.
  • Corroborationhighly cited
    • Cited by 837 works (OpenAlex citation count).
  • Provenanceidentified
    • Published in Orphanet Journal of Rare Diseases.
    • Publisher: BioMed Central.
    • ISSN 1750-1172.
    • The journal is listed in DOAJ.
    • Open-access status: gold.
Assessed by Epistry · metadata as of August 23, 2026
The complete European guidelines on phenylketonuria: diagnosis and tr… — Epistry